Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1D
Variant:p.F747V
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CACNA1D

NM_001128840.3:p.F747V

Associated Papers

Somatic drivers in aldosterone-producing adenomas and nodules: Insights from a Brazilian cohort of primary aldosteronism.

Guimaraes AG et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.

Tang X et al.

European Journal of Human Genetics : Ejhg, 2024

38553610 (PubMed )
Supplement: 41431_2024_1594_MOESM10_ESM.xlsx › rank2023

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

Approaches to Gene Mutation Analysis Using Formalin-Fixed Paraffin-Embedded Adrenal Tumor Tissue From Patients With Primary Aldosteronism.

Nanba K et al.

Frontiers in Endocrinology, 2021

Prevalence of Somatic Mutations in Aldosterone-Producing Adenomas in Japanese Patients.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Genetic, Cellular, and Molecular Heterogeneity in Adrenals With Aldosterone-Producing Adenoma.

De Sousa K et al.

Hypertension (dallas, Tex. : 1979), 2020

Genetic causes of primary aldosteronism.

Seidel E et al.

Experimental & Molecular Medicine, 2019

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.

Nanba K et al.

Hypertension (dallas, Tex. : 1979), 2019

Cellular and Genetic Causes of Idiopathic Hyperaldosteronism.

Omata K et al.

Hypertension (dallas, Tex. : 1979), 2018

Genetic Causes of Functional Adrenocortical Adenomas.

Zennaro MC et al.

Endocrine Reviews, 2017

Aldosterone-Producing Cell Clusters Frequently Harbor Somatic Mutations and Accumulate With Age in Normal Adrenals.

Omata K et al.

Journal of the Endocrine Society, 2017

Histopathological Classification of Cross-Sectional Image-Negative Hyperaldosteronism.

Yamazaki Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Molecular Heterogeneity in Aldosterone-Producing Adenomas.

Nanba K et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas.

Åkerström T et al.

Endocrine-related Cancer, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."